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Genetic Testing for Hearing Loss

Research Highlights

Researching Hearing Loss

Our understanding of the genetic causes of hearing loss has grown greatly over the last 10 years. However, there are still many things that we need to learn. You may help to expand our  knowledge base by volunteering for a research study.

Current research opportunities at Cincinnati Children's

Cincinnati Children's has an internationally recognized research program investigating the various causes of hearing loss, developing new genetic tests and applying this knowledge to medical decision making.

  • We are currently enrolling multi-generational families with hearing loss in order to identify new genes which cause hearing loss.
  • We are currently enrolling parents of children with SNHL who have had genetic testing for a study looking at better ways to present genetic information to parents in the future.
  • We are also enrolling patients with enlarged vestibular aqueduct syndrome to better understand the natural history of the disorder, determine the genetic factors causing the hearing loss and better understand the effects of balance issues with this condition.

For additional information about either of these ongoing studies, please contact our study coordinators at 513-636-5033.

Recent Publications from the Researchers at Cincinnati Children's
Yuan H, Qian Y, Xu Y, Cao J, Bai J, Shen W, Ji F, Zhang X, Kang D, Qin Mo J, Greinwald J, Han D, Zhai S, Young W, Guan M-X. Cosegregation of the A7444G mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss. American Journal of Medical Genetics 138:133-140, 2005.
Wiley S, Choo, D, Meinzen-Derr, J, Hilbert L, Greinwald, J. GJB2 mutations and additional disabilities in a pediatric cochlear implant population. International Journal of Pediatric Otolaryngology 70:493-500, 2006.
Saunders JE, Vaz S, Greinwald JH, Lai J, Morin L, Mojica K. Prevalence and Etiology of Hearing Loss in Rural Nicaraguan Children. Laryngoscope. 117:387-398, 2007.
Madden C, Halsted M, Meinzen-Derr J, Bardo D, Boston M, Nishimura C, Yang T, Benton C, Das V, Smith R, Choo D, Greinwald J. The influence of mutations in the SLC26A4/ PDS gene on the temporal bone in an enlarged vestibular aqueduct population. Archives of Otolaryngology Head and Neck Surgery. 133; 162-168, 2007.
Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I.GJB2 mutations in a North American Cohort of Children with Sensorineural Hearing Loss. Genetics in Medicine. 9:413-26. 2007.
Vijayasekaran S, Halsted MJ, Boston M, Meinzen-Derr J, Bardo DM, Greinwald J, Benton C.When is the vestibular aqueduct enlarged? A statistical analysis of the normative distribution of vestibular aqueduct size.American Journal of Neuroradiology 28:1133-1138, 2007.
Schraff SA, Brown DK, Schleiss MR, Meinzen-Derr J, Greinwald JH, Choo DI. The Role of CMV Inflammatory Genes in Hearing Loss. Otolology Neurotology; 137:612-618, 2007.
Boston M, Halsted M, Meinzen-Derr J, Bean J, Vijayasekaran S, Arjmand E, Choo D, Benton C, Greinwald J. The large vestibular aqueduct: a new definition based on audiologic and computed tomography correlation. Otolaryngology Head and Neck Surgery. 136:972-977, 2007.
Chen J, Yang L, Yang A, Zhu Yi, Zhao J, Sun D, Tao Z, Tang X, Wang J, Wang X, Tsushima A, Lan J, Li W, Wu F, Yuan Q, Ji J, Feng J, Wu C, Liao Z, Li Z,Greinwald J, Lu J, Guan Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Gene 401:4-11, 2007.